Genetic variants within immune-modulating genes influence the risk of developing rheumatoid arthritis and anti-TNF drug response

Canet, L; Cáliz, Rafael; Lupiañez, Carmen Belén; Canhão, Helena; Martínez, Manuel Fernández; Escudero, Alejandro; Filipescu, Ileana; Segura-Catena, Juana; Soto-Pino, María José; Ferrer, Miguel; Delgado, Antonio; Romani, Luigina; Pérez‐Pampín, Eva; González-Utrilla, Alfonso; Nevot, Miguel Ángel López; Collantes, Eduardo; Fonseca, João Eurico; Sainz, Juan

doi:10.1097/fpc.0000000000000155

Cited by 17 publications

(12 citation statements)

References 52 publications

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“…In total, 47 studies were included in the analysis; 42 candidate gene studies 14 , 15 , 16 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 and 5 genome-wide association studies (GWAS) 60 , 61 , 62 , 63 , 64 analysing responders versus non-responders from anti-TNF therapy in RA ( Table 1 ). Two studies reported associations between polymorphisms and treatment response in juvenile idiopathic arthritis (JIA) 37 , 50 and the others on adult RA.…”

Section: Resultsmentioning

confidence: 99%

Systematic review and meta-analysis: pharmacogenetics of anti-TNF treatment response in rheumatoid arthritis

et al. 2017

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Rheumatoid arthritis (RA) is a chronic inflammatory disease that affects ~1% of the Caucasian population. Over the last decades, the availability of biological drugs targeting the proinflammatory cytokine tumour necrosis factor α, anti-TNF drugs, has improved the treatment of patients with RA. However, one-third of the patients do not respond to the treatment. We wanted to evaluate the status of pharmacogenomics of anti-TNF treatment. We performed a PubMed literature search and all studies reporting original data on associations between genetic variants and anti-TNF treatment response in RA patients were included and results evaluated by meta-analysis. In total, 25 single nucleotide polymorphisms were found to be associated with anti-TNF treatment response in RA (19 from genome-wide association studies and 6 from the meta-analyses), and these map to genes involved in T cell function, NFκB and TNF signalling pathways (including CTCN5, TEC, PTPRC, FCGR2A, NFKBIB, FCGR2A, IRAK3). Explorative prediction analyses found that biomarkers for clinical treatment selection are not yet available.

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Section: Resultsmentioning

confidence: 99%

Systematic review and meta-analysis: pharmacogenetics of anti-TNF treatment response in rheumatoid arthritis

et al. 2017

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“…The Ethics committee of each participant institution approved the study protocol: Virgen de las Nieves University Hospital (2012/89); Santa Maria Hospital-CHLN (CE 877/121.2012); University Clinical Hospital of Santiago de Compostela (2013/156). A detailed description of the discovery population has been reported elsewhere [22][23][24] .…”

Section: Methodsmentioning

confidence: 99%

NFKB2 polymorphisms associate with the risk of developing rheumatoid arthritis and response to TNF inhibitors: Results from the REPAIR consortium

Sánchez-Maldonado

Martínez-Bueno

Canhão

et al. 2020

Sci Rep

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This study sought to evaluate the association of 28 single nucleotide polymorphisms (SNPs) within NFKB and inflammasome pathway genes with the risk of rheumatoid arthritis (RA) and response to TNF inhibitors (TNFi). We conducted a case-control study in a European population of 1194 RA patients and 1328 healthy controls. The association of potentially interesting markers was validated with data from the DANBIO (695 RA patients and 978 healthy controls) and DREAM (882 RA patients) registries. The meta-analysis of our data with those from the DANBIO registry confirmed that anti-citrullinated protein

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“…86,87 A recent study of 1239 participants found that patients with the IFNGrs2069705C allele had a significantly better response to TNF blocking therapy than did those carrying the wild-type allele. 88 As another example, various transforming growth factor b1 single nucleotide polymorphisms SNPs were associated with a good response to rituximab treatment. 89 Two studies have suggested a potential role for BAFF gene 871C>T promoter polymorphism and the 158 V/F polymorphism of FcGR3A in prediction of response to rituximab treatment.…”

Section: Genetics and Genomics In Prediction Of Response To Biologicamentioning

confidence: 99%

Prediction of Response to Targeted Treatment in Rheumatoid Arthritis

Wijbrandts

Tak

2017

Mayo Clinic Proceedings

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Rheumatoid arthritis is an autoimmune syndrome presenting with chronic inflammation of the joints. Patients with the same diagnosis can present with different phenotypes. In some patients severe joint inflammation and early joint destruction are observed, whereas a milder phenotype can be seen in others. Conversely, patients with the same signs and symptoms may exhibit different immunological and molecular abnormalities. Since the introduction of early treatment in clinical practice, the treat to target principle, and new medicines such as biologic disease-modifying antirheumatic drugs, clinical remission can be achieved early in the disease course, albeit not in all patients. The clinical response and efficacy of biologic disease-modifying antirheumatic drugs vary among different individuals. Therefore, there is a need to develop a more personalized approach toward treatment to achieve rapid remission in every patient to prevent disability and restore and maintain quality of life, without unnecessary adverse effects, in a cost-effective manner. The latest data from explorative studies of predictive markers of response are discussed here, together with a preliminary treatment algorithm based on currently available knowledge.

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Genetic variants within immune-modulating genes influence the risk of developing rheumatoid arthritis and anti-TNF drug response

Abstract: Our data suggest that IL4 and IL8RB loci may have a small-effect genetic impact on the risk of developing RA, whereas IFNG might be involved in modulating the response to anti-TNF drugs.

Cited by 17 publications

References 52 publications

Systematic review and meta-analysis: pharmacogenetics of anti-TNF treatment response in rheumatoid arthritis

Systematic review and meta-analysis: pharmacogenetics of anti-TNF treatment response in rheumatoid arthritis

NFKB2 polymorphisms associate with the risk of developing rheumatoid arthritis and response to TNF inhibitors: Results from the REPAIR consortium

Prediction of Response to Targeted Treatment in Rheumatoid Arthritis

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